Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: An observational multicenter trial

PLoS ONE

Volumn 10, Issue 4, 2015, Pages

  Seferian, Andreea Mihaela ^a   Moraux, Amélie ^a   Canal, Aurélie ^a   Decostre, Valérie ^a   Diebate, Oumar ^a   Le Moing, Anne Gaëlle ^a,b   Gidaro, Teresa ^a   Deconinck, Nicolas ^c   Van Parys, Frauke ^c   Vereecke, Wendy ^c   Wittevrongel, Sylvia ^c   Annoussamy, Mélanie ^a   Mayer, Michèle ^d   Maincent, Kim ^d   Cuisset, Jean Marie ^e   Tiffreau, Vincent ^e   Denis, Severine ^f   Jousten, Virginie ^f   Quijano Roy, Susana ^g   Voit, Thomas ^a,h   Hogrel, Jean Yves ^a   Servais, Laurent ^a,f   more..

^a Institute of Myology   (France)

^b AMIENS UNIVERSITY HOSPITAL   (France)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f Centre Hospitalier Regional de La Citadelle   (Belgium)

^g LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^h SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; ASSESSMENT OF HUMANS; BROOKE FUNCTIONAL SCORE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DYNAMOMETER; FEASIBILITY STUDY; FEMALE; FOLLOW UP; FORCED VITAL CAPACITY; GRIP STRENGTH; HAND FINGER EXTENSION FLEXION FUNCTION; HAND FUNCTION; HUMAN; KEY PINCH STRENGTH; MALE; MOTOR FUNCTION MEASURE; MULTICENTER STUDY (TOPIC); MUSCULOSKELETAL SYSTEM EXAMINATION; NON AMBULANT PATIENT; OBSERVATIONAL STUDY; PATIENT; PINCH STRENGTH; RELIABILITY; SAMPLE SIZE; SENSITIVITY ANALYSIS; SPINAL MUSCULAR ATROPHY; SPINAL MUSCULAR ATROPHY TYPE II; SPINAL MUSCULAR ATROPHY TYPE III; UPPER LIMB EVALUATION; VALIDATION PROCESS; CLINICAL TRIAL; HAND STRENGTH; HEREDITARY SPINAL MUSCULAR ATROPHY; MULTICENTER STUDY; NONINVASIVE VENTILATION; PATHOPHYSIOLOGY; PHYSIOLOGY; UPPER LIMB; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; FEMALE; FOLLOW-UP STUDIES; HAND STRENGTH; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; NONINVASIVE VENTILATION; PINCH STRENGTH; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; UPPER EXTREMITY; YOUNG ADULT;

EID: 84929462260     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0121799     Document Type: Article

References (34)

1. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995; 80(1):155-65. PMID: 7813012
2. Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol. 2012; 11(5):443-52. doi: 10.1016/S1474-4422(12)70061-3 PMID: 22516079
3. Munsat TL, Davies KE. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord. 1992; 2(5-6):423-8. PMID: 1483045
4. Schroth MK. Special considerations in the respiratory management of spinal muscular atrophy. Pediatrics. 2009; 123 Suppl 4:S245-9. doi: 10.1542/peds.2008-2952K PMID: 19420154
5. Rudnik-Schoneborn S, Hausmanowa-Petrusewicz I, Borkowska J, Zerres K. The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III. Eur Neurol. 2001; 45(3):174-81. PMID: 11306862
6. Russman BS, Buncher CR, White M, Samaha FJ, Iannaccone ST. Function changes in spinal muscular atrophy II and III. The DCN/SMA Group. Neurology. 1996; 47(4):973-6. PMID: 8857729
7. Farrar MA, Vucic S, Johnston HM, du Sart D, Kiernan MC. Pathophysiological insights derived by natural history and motor function of spinal muscular atrophy. J Pediatr. 2013; 162(1):155-9. doi: 10.1016/j.jpeds.2012.05.067 PMID: 22809660
8. Berard C, Payan C, Hodgkinson I, Fermanian J. A motor function measure for neuromuscular diseases. Construction and validation study. Neuromuscul Disord. 2005; 15(7):463-70. PMID: 16106528
9. Nelson L, Owens H, Hynan LS, Iannaccone ST. The gross motor function measure is a valid and sensitive outcome measure for spinal muscular atrophy. Neuromuscul Disord. 2006; 16(6):374-80. PMID: 16632361
10. Main M, Kairon H, Mercuri E, Muntoni F. The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol. 2003; 7(4):155-9. PMID: 12865054
11. Mercuri E, Messina S, Battini R, Berardinelli A, Boffi P, Bono R, et al. Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. Neuromuscul Disord. 2006; 16(2):93-8. PMID: 16427782
12. Mazzone E, Bianco F, Martinelli D, Glanzman AM, Messina S, De Sanctis R, et al. Assessing upper limb function in nonambulant SMA patients: development of a new module. Neuromuscul Disord. 2011; 21(6):406-12. doi: 10.1016/j.nmd.2011.02.014 PMID: 21421316
13. Steffensen B, Hyde S, Lyager S, Mattsson E. Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy. Physiother Res Int. 2001; 6(3):119-34. PMID: 11725594
14. Iannaccone ST, Hynan LS, Morton A, Buchanan R, Limbers CA, Varni JW. The PedsQL in pediatric patients with Spinal Muscular Atrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Generic Core Scales and Neuromuscular Module. Neuromuscul Disord. 2009; 19(12):805-12. doi: 10.1016/j.nmd.2009.09.009 PMID: 19846309
15. Vuillerot C, Payan C, Iwaz J, Ecochard R, Berard C. Responsiveness of the motor function measure in patients with spinal muscular atrophy. Arch Phys Med Rehabil. 2013; 94(8):1555-61. doi: 10.1016/j.apmr.2013.01.014 PMID: 23380348
16. Andrich D. Rating scales and Rasch measurement. Expert Rev Pharmacoecon Outcomes Res. 2011; 11(5):571-85. doi: 10.1586/erp.11.59 PMID: 21958102
17. Cano SJ, Mayhew A, Glanzman AM, Krosschell KJ, Swoboda KJ, Main M, et al. Rasch analysis of clinical outcome measures in spinal muscular atrophy. Muscle Nerve. 2014; 49(3):422-30. doi: 10.1002/mus.23937 PMID: 23836324
18. Sleigh JN, Grice SJ, Davies KE, Talbot K. Spinal muscular atrophy at the crossroads of basic science and therapy. Neuromuscul Disord. 2013; 23(1):96. doi: 10.1016/j.nmd.2012.08.008 PMID: 22981697
19. Merlini L, Bertini E, Minetti C, Mongini T, Morandi L, Angelini C, et al. Motor function-muscle strength relationship in spinal muscular atrophy. Muscle Nerve. 2004; 29(4):548-52. PMID: 15052620
20. Merlini L, Mazzone ES, Solari A, Morandi L. Reliability of hand-held dynamometry in spinal muscular atrophy. Muscle Nerve. 2002; 26(1):64-70. PMID: 12115950
21. Russman BS, Iannaccone ST, Cook JD, Buncher RR, Samaha F, Perkins B, et al. Sensitivity of the DCN-SMA Study Group methodology. Dallas-Cincinnati-Newington Spinal Muscular Atrophy (DCN-SMA) Study Group. Muscle Nerve. 1990; 13 Suppl:S13-5. PMID: 2233876
22. Servais L, Deconinck N, Moraux A, Benali M, Canal A, Van Parys F, et al. Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients. Neuromuscul Disord. 2013; 23(2):139-48. doi: 10.1016/j.nmd.2012.10.022 PMID: 23219352
23. Brooke MH, Griggs RC, Mendell JR, Fenichel GM, Shumate JB, Pellegrino RJ. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve. 1981; 4(3):186-97. PMID: 7017401
24. Chow S-C, Shao J, Wang H. Sample size calculations in clinical research. Boca Raton: Chapman & Hall/CRC; 2008.
25. Allenbach Y, Benveniste O, Decostre V, Canal A, Eymard B, Herson S, et al. Quadriceps strength is a sensitive marker of disease progression in sporadic inclusion body myositis. Neuromuscul Disord. 2012; 22(11):980-6. doi: 10.1016/j.nmd.2012.05.004 PMID: 22738680
26. Seferian AM, Moraux A, Annoussamy M, Canal A, Decostre V, Diebate O, et al. Upper Limb Strength and Function Changes during a One-Year Follow-Up in Non-Ambulant Patients with Duchenne Muscular Dystrophy: An Observational Multicenter Trial. PLoS One. 2015; 10(2):e0113999. doi: 10.1371/journal.pone.0113999 PMID: 25643053
27. Werlauff U, Vissing J, Steffensen BF. Change in muscle strength over time in spinal muscular atrophy types II and III. A long-term follow-up study. Neuromuscul Disord. 2012; 22(12):1069-74. doi: 10.1016/j.nmd.2012.06.352 PMID: 23127961
28. Carter GT, Abresch RT, Fowler WM Jr, Johnson ER, Kilmer DD, McDonald CM. Profiles of neuromuscular diseases. Spinal muscular atrophy. Am J Phys Med Rehabil. 1995; 74(5 Suppl):S150-9. PMID: 7576422
29. Ioos C, Leclair-Richard D, Mrad S, Barois A, Estournet-Mathiaud B. Respiratory capacity course in patients with infantile spinal muscular atrophy. Chest. 2004; 126(3):831-7. PMID: 15364763
30. Steffensen BF, Lyager S, Werge B, Rahbek J, Mattsson E. Physical capacity in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study. Dev Med Child Neurol. 2002; 44(9):623-32. PMID: 12227617
31. Kaufmann P, McDermott MP, Darras BT, Finkel R, Kang P, Oskoui M, et al. Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. Arch Neurol. 2011; 68(6):779-86. doi: 10.1001/archneurol.2010.373 PMID: 21320981
32. Swoboda KJ, Prior TW, Scott CB, McNaught TP, Wride MC, Reyna SP, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol. 2005; 57(5):704-12. PMID: 15852397
33. Febrer A, Rodriguez N, Alias L, Tizzano E. Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy. J Rehabil Med. 2010; 42(3):228-31. doi: 10.2340/16501977-0507 PMID: 20411217
34. McDonald CM, Henricson EK, Abresch RT, Florence JM, Eagle M, Gappmaier E, et al. The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. Muscle Nerve. 2013; 48(3):343-56. doi: 10.1002/mus.23902 PMID: 23681930